Tag Archives: gene

A while ago I wrote a post called Today I cried. I’d had the realisation that to have more children I would have to go through the process of IVF or adoption. Both filled me with fear. The fear of IVF failing. What if it doesn’t work and I still end up passing on ARX to another child? What if something completely different goes wrong?

Before I’d written that post I’d phoned up the social services department to discuss our options for adopting a child. The conversation was depressing. I realised that because of Sam’s medical problems and needs, the adoption process for us would be very different for us compared to other people and we would have so much to prove.

I wrote that post because I was frightened that we may never have any more children. I felt guilty for having this defect inside me that can scupper our chances of expanding our family. I felt guilty that I wanted to have more children. Samuel is our world. We will always adore him and do everything for him. We will fight tooth and nail for him. All the way. That will NEVER change. But I have this dull ache of guilt in my chest and in my gut that I just can’t shake off.

But today we met with the genetics expert to find out about our options for having a child. For me to carry the child. We hadn’t seen this doctor for a year since she told us about Samuel’s diagnosis and she told us that we would probably only have him for months. So it was nice to show her that he was still here, still fighting. Still gorgeous.

So the doctor went over some of the bits we already knew about ARX but she really shocked me. We were always on the understanding that if we had had a girl they would be like me, just a carrier without symptoms. But either new information has been discovered or she’s done better research, but apparently there would be a 1 in 3 chance a girl could be fine (like me), 1 in 3 chance that the girl could have mild learning difficulties or 1 in 3 chance they could be as severe as Sam. So I in effect could have had learning difficulties or be as limited as Sam with a short life expectancy. That came as quite a shock. As females we have two X chromosomes, well the defect is in one of my X chromosomes, but apparently sometimes the body does you a favour and automatically draws on the good X and squishes the bad one into the corner. Because it is a development gene and I am thankfully ‘developed’, it wont cause me any problems now. How lucky am I?

So we discussed options. I have a 50/50 chance of producing a good egg without defect. I could fall pregnant naturally then at 12 weeks they can do a test which involves taking a sample from the placenta and find out whether we are carrying a child with the ARX gene. Then we would have a choice to terminate the pregnancy if we didn’t want to continue. It is pretty much guaranteed that if we did have a child with ARX they would be as severe as Sam because I’m carrying a severe mutation. This is not an option for us at all. It is too much of a dangerous gamble. I do not want to pass this on to another child but I couldn’t terminate. At 12 weeks? At 12 weeks I saw Samuel on the scan. Not for us.

So the next option is IVF PGD. They take my eggs and by removing a cell, they can identify which are viable and ARX -free. Essentially it is like removing 1/8 of that persons genes. Then they implant (like IVF). There are no guarantees. I may not even produce quality eggs that they can work with. It might be a whole expensive, emotional waste of time. Also, to be able to do it they need a licence for the specific genetic condition and there is a chance that they may not have a licence for ARX. That isn’t a problem, the hospital can get one, but it can take up to a year for the hospital to get it. We would just have to hope that a couple like us, in our situation has already been down that route and triggered the need for that specific licence.

Next option is egg donation. It is IVF again of course. There is a waiting list and there is a country-wide shortage of egg donors, so it won’t happen quickly.

So that’s it. Oh and a few other figures to chuck about. Samuel is the only child in the country they know of with such a severe form of ARX. Samuel is one of only 30 children (past and present) to have been known to have ARX worldwide.

How do we feel? Better now then we did when we left the office because we’ve had the chance to process it all. But we have options. Yes all our options are difficult, long, emotional with no guarantees. But we’ve got to try, haven’t we?

Recent ramblings

WHAT DOES THAT MEAN?

NICU – Neonatal Intensive Care Unit (Sam spent 8 weeks there)
MIDAZOLAM – Samuel’s emergency medicine
JULIA’S HOUSE – Hospice which provides respite and play therapy (and lots of cuddles for Sam)
KETOGENIC DIET – Special diet which can help epilepsy
GASTROSTOMY – This is a button put into the stomach and all feeds and medicines can be given through it
CHLORAL HYDRATE – Medicine Samuel has at bedtime to help him sleep
SATURATION MONITOR (SATS MONITOR) – Used to monitor heart rate and oxygen in the blood
NASOGASTRIC TUBE (NG TUBE) – Tube that goes into the nose and down the throat and feeds and medicines can be given through it